Incidental Mutation 'RF025:Ccdc170'
ID |
604129 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc170
|
Ensembl Gene |
ENSMUSG00000019767 |
Gene Name |
coiled-coil domain containing 170 |
Synonyms |
Gm221, LOC237250 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.310)
|
Stock # |
RF025 (G1)
|
Quality Score |
204.462 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
4432502-4512231 bp(+) (GRCm39) |
Type of Mutation |
small insertion (1 aa in frame mutation) |
DNA Base Change (assembly) |
ACC to ACCCCC
at 4511026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019901]
[ENSMUST00000138112]
|
AlphaFold |
D3YXL0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019901
|
SMART Domains |
Protein: ENSMUSP00000019901 Gene: ENSMUSG00000019767
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
160 |
N/A |
INTRINSIC |
coiled coil region
|
264 |
302 |
N/A |
INTRINSIC |
low complexity region
|
345 |
357 |
N/A |
INTRINSIC |
coiled coil region
|
379 |
415 |
N/A |
INTRINSIC |
coiled coil region
|
475 |
649 |
N/A |
INTRINSIC |
low complexity region
|
678 |
690 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138112
|
SMART Domains |
Protein: ENSMUSP00000115997 Gene: ENSMUSG00000019767
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
internal_repeat_1
|
80 |
93 |
6.25e-5 |
PROSPERO |
internal_repeat_1
|
305 |
318 |
6.25e-5 |
PROSPERO |
low complexity region
|
351 |
363 |
N/A |
INTRINSIC |
coiled coil region
|
385 |
421 |
N/A |
INTRINSIC |
coiled coil region
|
481 |
655 |
N/A |
INTRINSIC |
low complexity region
|
684 |
696 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap3 |
CTGCTG |
CTGCTGCATCCTGGGTTGCTG |
4: 155,989,559 (GRCm39) |
|
probably benign |
Het |
AI837181 |
GGC |
GGCCGC |
19: 5,475,254 (GRCm39) |
|
probably benign |
Het |
Arid1b |
GCG |
GCGTCG |
17: 5,045,863 (GRCm39) |
|
probably benign |
Het |
Arid1b |
GGC |
GGCTGC |
17: 5,045,871 (GRCm39) |
|
probably benign |
Het |
AY358078 |
CAGGT |
CAGGTAGGATAAGGT |
14: 52,043,046 (GRCm39) |
|
probably null |
Het |
AY761185 |
GCACTGTGGGC |
G |
8: 21,433,918 (GRCm39) |
|
probably null |
Het |
Bcar1 |
C |
A |
8: 112,440,809 (GRCm39) |
R395L |
possibly damaging |
Het |
Begain |
CGCCGC |
CGCCGCGGCCGC |
12: 108,999,350 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
GAG |
GAGTAG |
X: 7,486,296 (GRCm39) |
|
probably null |
Het |
Calhm1 |
GC |
GCTGTGGCTGTGTC |
19: 47,129,715 (GRCm39) |
|
probably benign |
Het |
Calhm1 |
C |
CTGTGAATGTGGA |
19: 47,129,716 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
AGGGA |
AGGGATGTGACAGTCACACTGCCCTGGGA |
9: 86,922,497 (GRCm39) |
|
probably benign |
Het |
Defb22 |
GCTGGCCT |
GCTGGCCTCTGCGGCAGACCTGGCCT |
2: 152,327,743 (GRCm39) |
|
probably benign |
Het |
Defb22 |
CTGGC |
CTGGCGTTTGCGGCAGAGATGGC |
2: 152,327,744 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
GGGCGGAGCACAGTTCCTACCTCGTT |
GGGCGGAGCACAGTTCCTACCTCGTTTTGGCGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,416 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
CCTACCTCGTT |
CCTACCTCGTTTTGGGGGCGGAGAACAGTTTCTACCTCGTT |
9: 20,821,431 (GRCm39) |
|
probably null |
Het |
Dock4 |
GTGCCGGTGCCGGT |
G |
12: 40,894,392 (GRCm39) |
|
probably null |
Het |
Efhd2 |
CCGCC |
CCGCCGACGCC |
4: 141,602,082 (GRCm39) |
|
probably benign |
Het |
Epha8 |
CCTGGGC |
CC |
4: 136,660,348 (GRCm39) |
|
probably benign |
Het |
Eps8 |
CTCA |
CTCAATCA |
6: 137,494,064 (GRCm39) |
|
probably benign |
Het |
Exd2 |
CAGCCAGAGC |
CAGC |
12: 80,522,729 (GRCm39) |
|
probably benign |
Het |
Gab3 |
TCT |
TCTGCT |
X: 74,043,614 (GRCm39) |
|
probably benign |
Het |
Gm5475 |
GAAGGAAAGGT |
G |
15: 100,325,033 (GRCm39) |
|
probably null |
Het |
Gm8369 |
TGTG |
TGTGCGTG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
Gpatch3 |
GGAG |
GG |
4: 133,305,621 (GRCm39) |
|
probably null |
Het |
Heatr3 |
TTAT |
TTATGTAT |
8: 88,883,084 (GRCm39) |
|
probably benign |
Het |
Hsdl2 |
GCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
GCAGGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
4: 59,610,637 (GRCm39) |
|
probably benign |
Het |
Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 67,875,927 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
Las1l |
CTTCCT |
CTTCCTATTCCT |
X: 94,984,226 (GRCm39) |
|
probably null |
Het |
Lcmt1 |
GGC |
GGCCGCGGGGCGC |
7: 122,969,057 (GRCm39) |
|
probably null |
Het |
Mamld1 |
AGC |
AGCCGC |
X: 70,162,432 (GRCm39) |
|
probably benign |
Het |
Map1a |
AGC |
AGCGCCAGCTCCAGCTCCAGCTCCAGCTCCCGC |
2: 121,136,775 (GRCm39) |
|
probably benign |
Het |
Mdc1 |
CCCCCCCC |
CCCCCCCCCCCCCC |
17: 36,165,299 (GRCm39) |
|
probably benign |
Het |
Mn1 |
CAG |
CAGTAG |
5: 111,567,571 (GRCm39) |
|
probably null |
Het |
Morn4 |
GCAG |
GCAGGGAGTCAGTCAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
Muc21 |
CGGGGTAGGTGTAGATCCTGAGGCAGTGCTGGATGCAGGGGTGGTTGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATGCAG |
CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATGCAG |
17: 35,933,771 (GRCm39) |
|
probably benign |
Het |
Nefh |
CCTCAGCTGGGGACTTGG |
CCTCAGCTGGGGACTTGGGCTCAGCTGGGGACTTGG |
11: 4,891,003 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGG |
GGGTACTTGTCCTCACCTTGG |
11: 4,891,029 (GRCm39) |
|
probably benign |
Het |
Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
Pdik1l |
CCC |
CCCCACC |
4: 134,013,905 (GRCm39) |
|
probably null |
Het |
Plekhs1 |
TCCAGAC |
TCCAGACCTCCCCCCAGAC |
19: 56,468,290 (GRCm39) |
|
probably benign |
Het |
Polr1has |
CACCACCACCACCACCACCAC |
CACCACCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 37,275,940 (GRCm39) |
|
probably benign |
Het |
Rtbdn |
GCGGC |
GCGGCAACGGC |
8: 85,682,804 (GRCm39) |
|
probably benign |
Het |
Sh3pxd2b |
TGTGCCTGT |
TGTGCCTGTGCCTGT |
11: 32,373,057 (GRCm39) |
|
probably benign |
Het |
Slamf6 |
GAGTATTATTCTTTTGTTTGTTTGTTTGTTTGTTTGTTTACAG |
GAG |
1: 171,769,149 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCAACA |
GCAACAACA |
17: 48,097,013 (GRCm39) |
|
probably benign |
Het |
Zfp106 |
CTCCTGGCAGT |
CT |
2: 120,355,026 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ccdc170 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00502:Ccdc170
|
APN |
10 |
4,496,836 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01018:Ccdc170
|
APN |
10 |
4,464,114 (GRCm39) |
missense |
probably benign |
|
IGL01018:Ccdc170
|
APN |
10 |
4,462,788 (GRCm39) |
missense |
probably benign |
|
IGL01018:Ccdc170
|
APN |
10 |
4,464,155 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01114:Ccdc170
|
APN |
10 |
4,508,550 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01377:Ccdc170
|
APN |
10 |
4,510,966 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01726:Ccdc170
|
APN |
10 |
4,499,713 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02110:Ccdc170
|
APN |
10 |
4,491,885 (GRCm39) |
splice site |
probably null |
|
FR4304:Ccdc170
|
UTSW |
10 |
4,511,021 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Ccdc170
|
UTSW |
10 |
4,511,026 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Ccdc170
|
UTSW |
10 |
4,511,029 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Ccdc170
|
UTSW |
10 |
4,511,023 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Ccdc170
|
UTSW |
10 |
4,511,029 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Ccdc170
|
UTSW |
10 |
4,511,008 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Ccdc170
|
UTSW |
10 |
4,511,023 (GRCm39) |
small insertion |
probably benign |
|
R0137:Ccdc170
|
UTSW |
10 |
4,496,950 (GRCm39) |
splice site |
probably benign |
|
R0280:Ccdc170
|
UTSW |
10 |
4,508,663 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0480:Ccdc170
|
UTSW |
10 |
4,468,939 (GRCm39) |
missense |
probably benign |
0.00 |
R1786:Ccdc170
|
UTSW |
10 |
4,469,043 (GRCm39) |
missense |
probably benign |
0.02 |
R2383:Ccdc170
|
UTSW |
10 |
4,484,208 (GRCm39) |
missense |
probably benign |
0.00 |
R3031:Ccdc170
|
UTSW |
10 |
4,468,931 (GRCm39) |
missense |
probably damaging |
0.99 |
R3797:Ccdc170
|
UTSW |
10 |
4,510,920 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4494:Ccdc170
|
UTSW |
10 |
4,464,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R4916:Ccdc170
|
UTSW |
10 |
4,468,971 (GRCm39) |
missense |
probably damaging |
0.96 |
R5152:Ccdc170
|
UTSW |
10 |
4,511,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R5170:Ccdc170
|
UTSW |
10 |
4,464,200 (GRCm39) |
missense |
probably damaging |
0.99 |
R5354:Ccdc170
|
UTSW |
10 |
4,484,188 (GRCm39) |
missense |
probably benign |
0.16 |
R5911:Ccdc170
|
UTSW |
10 |
4,508,551 (GRCm39) |
nonsense |
probably null |
|
R5983:Ccdc170
|
UTSW |
10 |
4,470,851 (GRCm39) |
nonsense |
probably null |
|
R6374:Ccdc170
|
UTSW |
10 |
4,499,746 (GRCm39) |
nonsense |
probably null |
|
R6645:Ccdc170
|
UTSW |
10 |
4,510,974 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6818:Ccdc170
|
UTSW |
10 |
4,491,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R6888:Ccdc170
|
UTSW |
10 |
4,496,854 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7032:Ccdc170
|
UTSW |
10 |
4,432,597 (GRCm39) |
missense |
unknown |
|
R7206:Ccdc170
|
UTSW |
10 |
4,464,120 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7393:Ccdc170
|
UTSW |
10 |
4,464,314 (GRCm39) |
critical splice donor site |
probably null |
|
R7438:Ccdc170
|
UTSW |
10 |
4,508,512 (GRCm39) |
nonsense |
probably null |
|
R7471:Ccdc170
|
UTSW |
10 |
4,470,803 (GRCm39) |
missense |
probably benign |
0.00 |
R7514:Ccdc170
|
UTSW |
10 |
4,496,839 (GRCm39) |
missense |
probably benign |
0.37 |
R7818:Ccdc170
|
UTSW |
10 |
4,499,603 (GRCm39) |
missense |
probably benign |
0.05 |
R8942:Ccdc170
|
UTSW |
10 |
4,484,044 (GRCm39) |
missense |
probably benign |
0.07 |
R9069:Ccdc170
|
UTSW |
10 |
4,511,016 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9355:Ccdc170
|
UTSW |
10 |
4,508,695 (GRCm39) |
missense |
probably benign |
0.17 |
R9790:Ccdc170
|
UTSW |
10 |
4,483,957 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9791:Ccdc170
|
UTSW |
10 |
4,483,957 (GRCm39) |
critical splice acceptor site |
probably null |
|
RF006:Ccdc170
|
UTSW |
10 |
4,511,030 (GRCm39) |
small insertion |
probably benign |
|
RF009:Ccdc170
|
UTSW |
10 |
4,511,030 (GRCm39) |
small insertion |
probably benign |
|
RF011:Ccdc170
|
UTSW |
10 |
4,511,018 (GRCm39) |
small insertion |
probably benign |
|
RF017:Ccdc170
|
UTSW |
10 |
4,511,024 (GRCm39) |
small insertion |
probably benign |
|
RF023:Ccdc170
|
UTSW |
10 |
4,511,018 (GRCm39) |
small insertion |
probably benign |
|
RF024:Ccdc170
|
UTSW |
10 |
4,511,024 (GRCm39) |
small insertion |
probably benign |
|
RF027:Ccdc170
|
UTSW |
10 |
4,511,026 (GRCm39) |
small insertion |
probably benign |
|
RF029:Ccdc170
|
UTSW |
10 |
4,511,026 (GRCm39) |
small insertion |
probably benign |
|
RF050:Ccdc170
|
UTSW |
10 |
4,511,008 (GRCm39) |
small insertion |
probably benign |
|
RF064:Ccdc170
|
UTSW |
10 |
4,511,025 (GRCm39) |
small insertion |
probably benign |
|
Z1177:Ccdc170
|
UTSW |
10 |
4,459,884 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTATTGTTGTTGCACTTGACC -3'
(R):5'- GTCACACACTATGGCTGAATTTC -3'
Sequencing Primer
(F):5'- GTTGCACTTGACCCAGCAATG -3'
(R):5'- CACAACTGGAGAATCGTAC -3'
|
Posted On |
2019-12-04 |